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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID ▲ |
|---|---|---|---|---|---|
| C0035334 | Retinitis Pigmentosa | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0028738 | Nystagmus | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0009402 | Colorectal Carcinoma | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C3714756 | Intellectual Disability | PAFAH1B3 | 5050 | platelet activating factor acetylhydrolase 1b catalytic subunit 3 | Q15102 |
| C0025362 | Mental Retardation | PAFAH1B3 | 5050 | platelet activating factor acetylhydrolase 1b catalytic subunit 3 | Q15102 |
| C0009402 | Colorectal Carcinoma | PGM5 | 5239 | phosphoglucomutase 5 | Q15124 |
| C0005695 | Bladder Neoplasm | PGM5 | 5239 | phosphoglucomutase 5 | Q15124 |
| C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | PGM5 | 5239 | phosphoglucomutase 5 | Q15124 |
| C0005684 | Malignant neoplasm of urinary bladder | PGM5 | 5239 | phosphoglucomutase 5 | Q15124 |
| C0345904 | Malignant neoplasm of liver | PGM5 | 5239 | phosphoglucomutase 5 | Q15124 |
| C0699885 | Carcinoma of bladder | PGM5 | 5239 | phosphoglucomutase 5 | Q15124 |
| C0027651 | Neoplasms | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0029124 | Optic Atrophy | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0023418 | leukemia | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0029422 | Osteochondrodysplasias | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0005684 | Malignant neoplasm of urinary bladder | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0023473 | Myeloid Leukemia, Chronic | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0003507 | Aortic Valve Stenosis | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0000768 | Congenital Abnormality | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0008445 | Chondrodysplasia Punctata | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C2239176 | Liver carcinoma | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C1384666 | hearing impairment | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C2711227 | Steatohepatitis | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0266544 | Microcornea | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
